Article
BMP signaling and skeletal development in fibrodysplasia ossificans progressiva (FOP).
Developmental dynamics : an official publication of the American Association of Anatomists - 1 Jan 2022
Towler Oscar Will, Shore Eileen M
Abstract excerpt
Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disease caused by increased BMP pathway signaling due to mutation of ACVR1, a bone morphogenetic protein (BMP) type 1 receptor. The primary clinical manifestation of FOP is extra-skeletal bone formation (heterotopic ossification) within soft connective tissues. However, the underlying ACVR1 mutation additionally alters skeletal bone development...
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